PLSCR2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the phospholipid scramblase family. Phospholipid scramblases are membrane proteins that mediate calcium-dependent, non-specific movement of plasma membrane phospholipids and phosphatidylserine exposure. The encoded protein contains a low affinity calcium binding motif and may play a role in blood coagulation and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1somite rostral/caudal axis specification (GO:0032525)9.59950474
2endoderm formation (GO:0001706)9.16683285
3negative regulation of activin receptor signaling pathway (GO:0032926)9.04488869
4cell migration involved in gastrulation (GO:0042074)8.64292470
5sequestering of extracellular ligand from receptor (GO:0035581)7.83978509
6anterior/posterior axis specification (GO:0009948)7.27342826
7urate metabolic process (GO:0046415)7.05650075
8signal transduction involved in regulation of gene expression (GO:0023019)6.98867356
9drug transmembrane transport (GO:0006855)6.95629082
10regulation of activin receptor signaling pathway (GO:0032925)6.82035801
11primitive streak formation (GO:0090009)6.67143128
12lysine catabolic process (GO:0006554)6.48563711
13lysine metabolic process (GO:0006553)6.48563711
14L-serine transport (GO:0015825)6.41363124
15glyoxylate metabolic process (GO:0046487)6.04753137
16drug transport (GO:0015893)5.83609896
17cysteine metabolic process (GO:0006534)5.82982466
18aromatic amino acid family catabolic process (GO:0009074)5.79863910
19L-phenylalanine catabolic process (GO:0006559)5.76320843
20erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.76320843
21embryonic axis specification (GO:0000578)5.73443244
22tryptophan catabolic process (GO:0006569)5.72816128
23indole-containing compound catabolic process (GO:0042436)5.72816128
24indolalkylamine catabolic process (GO:0046218)5.72816128
25L-phenylalanine metabolic process (GO:0006558)5.63322497
26erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.63322497
27gastrulation (GO:0007369)5.56927269
28anterior/posterior axis specification, embryo (GO:0008595)5.55319414
29serine transport (GO:0032329)5.50195461
30tryptophan metabolic process (GO:0006568)5.43534603
31aminoglycoside antibiotic metabolic process (GO:0030647)5.42518147
32nodal signaling pathway (GO:0038092)5.39075673
33Rap protein signal transduction (GO:0032486)5.27271599
34vitamin catabolic process (GO:0009111)5.24869510
35fat-soluble vitamin catabolic process (GO:0042363)5.24869510
36response to mercury ion (GO:0046689)5.20493753
37drug catabolic process (GO:0042737)5.17837963
38regulation of gastrulation (GO:0010470)5.08696266
39homocysteine metabolic process (GO:0050667)5.07061592
40fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.06970006
41DNA replication-dependent nucleosome assembly (GO:0006335)5.06080282
42DNA replication-dependent nucleosome organization (GO:0034723)5.06080282
43organic cation transport (GO:0015695)5.05884666
44negative regulation of cell fate specification (GO:0009996)4.91971046
45exogenous drug catabolic process (GO:0042738)4.89010072
46positive regulation of gastrulation (GO:2000543)4.86681893
47kynurenine metabolic process (GO:0070189)4.85575259
48embryonic pattern specification (GO:0009880)4.83899658
49phosphate ion transport (GO:0006817)4.73441406
50embryonic foregut morphogenesis (GO:0048617)4.65717537
51extracellular negative regulation of signal transduction (GO:1900116)4.64272901
52extracellular regulation of signal transduction (GO:1900115)4.64272901
53amino-acid betaine metabolic process (GO:0006577)4.61329646
54mitochondrial fragmentation involved in apoptotic process (GO:0043653)4.53432772
55serine family amino acid catabolic process (GO:0009071)4.51820524
56cellular response to BMP stimulus (GO:0071773)4.50968047
57response to BMP (GO:0071772)4.50968047
58short-chain fatty acid metabolic process (GO:0046459)4.42955837
59axis specification (GO:0009798)4.39113793
60valine metabolic process (GO:0006573)4.36197563
61branched-chain amino acid metabolic process (GO:0009081)4.31879676
62interferon-gamma production (GO:0032609)4.31658226
63aspartate family amino acid catabolic process (GO:0009068)4.30207960
64quaternary ammonium group transport (GO:0015697)4.28605602
65cellular ketone body metabolic process (GO:0046950)4.24609084
66phosphate ion transmembrane transport (GO:0035435)4.20765128
67female gonad development (GO:0008585)4.19527503
68sulfur amino acid catabolic process (GO:0000098)4.17777777
69aromatic amino acid family metabolic process (GO:0009072)4.17638852
70DNA deamination (GO:0045006)4.16968490
71bile acid biosynthetic process (GO:0006699)4.14452584
72fatty acid beta-oxidation (GO:0006635)4.11570684
73excretion (GO:0007588)4.09990145
74renal absorption (GO:0070293)4.05451317
75benzene-containing compound metabolic process (GO:0042537)4.04636998
76indolalkylamine metabolic process (GO:0006586)4.03908670
77alpha-amino acid catabolic process (GO:1901606)4.01760778
782-oxoglutarate metabolic process (GO:0006103)3.97725499
79tricarboxylic acid metabolic process (GO:0072350)3.96987931
80serine family amino acid metabolic process (GO:0009069)3.96763225
81cellular modified amino acid catabolic process (GO:0042219)3.96448596
82fatty acid oxidation (GO:0019395)3.96326894
83branched-chain amino acid catabolic process (GO:0009083)3.95645557
84positive regulation of protein autophosphorylation (GO:0031954)3.95519848
85vitamin D metabolic process (GO:0042359)3.92222523
86CENP-A containing nucleosome assembly (GO:0034080)3.92129936
87amine catabolic process (GO:0009310)3.89770577
88cellular biogenic amine catabolic process (GO:0042402)3.89770577
89lipid oxidation (GO:0034440)3.88932217
90dorsal/ventral axis specification (GO:0009950)3.88678405
91carnitine metabolic process (GO:0009437)3.88582036
92cellular amino acid catabolic process (GO:0009063)3.87008228
93cellular glucuronidation (GO:0052695)3.83759872
94histone exchange (GO:0043486)3.78196070
95regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.77558335
96glucuronate metabolic process (GO:0019585)3.77183818
97uronic acid metabolic process (GO:0006063)3.77183818
98UDP-N-acetylglucosamine metabolic process (GO:0006047)3.75392158
99regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.75372055
100negative regulation of embryonic development (GO:0045992)3.75284815
101positive regulation of SMAD protein import into nucleus (GO:0060391)3.74528584
102chromatin remodeling at centromere (GO:0031055)3.72576981
103positive regulation of cardiac muscle cell proliferation (GO:0060045)3.72019863
104limb bud formation (GO:0060174)3.70817279
105aldehyde catabolic process (GO:0046185)3.68855591
106aggressive behavior (GO:0002118)3.68419820
107glutamate metabolic process (GO:0006536)3.66568147
108uterus development (GO:0060065)3.64566958
109response to nitrosative stress (GO:0051409)3.63462578
110ketone body metabolic process (GO:1902224)3.63424420
111negative regulation of axon extension involved in axon guidance (GO:0048843)3.61579724
112genitalia morphogenesis (GO:0035112)3.59778827
113carboxylic acid catabolic process (GO:0046395)3.57447873
114organic acid catabolic process (GO:0016054)3.57447873
115nonribosomal peptide biosynthetic process (GO:0019184)3.55896246
116fatty acid catabolic process (GO:0009062)3.54450594
117flavonoid metabolic process (GO:0009812)3.53685015
118pericardium development (GO:0060039)3.52531512
119acetyl-CoA metabolic process (GO:0006084)3.52478989
120monocarboxylic acid catabolic process (GO:0072329)3.52292381
121xenobiotic catabolic process (GO:0042178)3.50168250
122positive regulation of cardiac muscle tissue development (GO:0055025)3.47607821
123metanephric tubule development (GO:0072170)3.46133690
124metanephric nephron tubule development (GO:0072234)3.46133690
125activin receptor signaling pathway (GO:0032924)3.45520440
126organ formation (GO:0048645)3.45429377
127carnitine transport (GO:0015879)3.43845941
128amino-acid betaine transport (GO:0015838)3.43845941
129alpha-linolenic acid metabolic process (GO:0036109)3.43216156
130response to hepatocyte growth factor (GO:0035728)3.42028753
131cellular response to hepatocyte growth factor stimulus (GO:0035729)3.42028753
132regulation of axon extension involved in axon guidance (GO:0048841)3.39634773
133drug metabolic process (GO:0017144)3.38351508
134negative regulation of cell fate commitment (GO:0010454)3.36773791
135tyrosine metabolic process (GO:0006570)3.35357130
136toxin transport (GO:1901998)3.35292119
137bile acid metabolic process (GO:0008206)3.34809216
138formation of primary germ layer (GO:0001704)3.33549328
139metanephric epithelium development (GO:0072207)3.31548283
140metanephric nephron epithelium development (GO:0072243)3.30356069
141positive regulation of cardiac muscle tissue growth (GO:0055023)3.29272134
142glutathione derivative biosynthetic process (GO:1901687)3.26978480
143glutathione derivative metabolic process (GO:1901685)3.26978480
144SMAD protein signal transduction (GO:0060395)3.26694798
145fructose metabolic process (GO:0006000)3.26464134
146serine family amino acid biosynthetic process (GO:0009070)3.25269041
147mesenchymal to epithelial transition (GO:0060231)3.25196627
148ethanol oxidation (GO:0006069)3.24839695
149urea cycle (GO:0000050)3.24162074
150urea metabolic process (GO:0019627)3.24162074
151indole-containing compound metabolic process (GO:0042430)3.22831355
152peptidyl-glutamic acid carboxylation (GO:0017187)3.22552788
153protein carboxylation (GO:0018214)3.22552788
154proline metabolic process (GO:0006560)3.18274615
155glutathione biosynthetic process (GO:0006750)3.17856067
156regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901213.13907047
157regulation of cell fate specification (GO:0042659)3.12394813
158glutathione metabolic process (GO:0006749)3.12367447
159glycosphingolipid biosynthetic process (GO:0006688)3.11992425
160regulation of cardioblast differentiation (GO:0051890)3.10602856
161response to phenylpropanoid (GO:0080184)3.09794785
162small molecule catabolic process (GO:0044282)3.07160929
163ureteric bud development (GO:0001657)3.06737466
164nitrogen cycle metabolic process (GO:0071941)3.06458592
165kidney morphogenesis (GO:0060993)3.06342332
166L-ascorbic acid metabolic process (GO:0019852)3.05683571
167cardiocyte differentiation (GO:0035051)3.04398872
168embryonic retina morphogenesis in camera-type eye (GO:0060059)3.00911994
169positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)3.00069325
170regulation of collateral sprouting (GO:0048670)2.98702551
171mitochondrial fission (GO:0000266)2.98309173
172response to growth hormone (GO:0060416)2.98185473
173dicarboxylic acid biosynthetic process (GO:0043650)2.98099801
174regulation of timing of cell differentiation (GO:0048505)2.97830613
175regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.96801267
176DNA replication-independent nucleosome organization (GO:0034724)2.96075373
177DNA replication-independent nucleosome assembly (GO:0006336)2.96075373
178branch elongation of an epithelium (GO:0060602)2.95973043
179forebrain neuron differentiation (GO:0021879)2.93662398
180somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.91141525
181isotype switching (GO:0045190)2.91141525
182somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.91141525
183positive regulation of muscle organ development (GO:0048636)2.87035500
184positive regulation of striated muscle tissue development (GO:0045844)2.87035500
185telencephalon development (GO:0021537)2.86983725
186N-glycan processing (GO:0006491)2.86946051
187atrial cardiac muscle cell action potential (GO:0086014)2.85715245
188DNA double-strand break processing (GO:0000729)2.83613012
189segment specification (GO:0007379)2.82948505
190regulation of SMAD protein import into nucleus (GO:0060390)2.82943629
191regulation of axon guidance (GO:1902667)2.82192527
192positive regulation of muscle tissue development (GO:1901863)2.79327484
193* phospholipid scrambling (GO:0017121)2.78982863
194lung morphogenesis (GO:0060425)2.76232290
195glomerulus development (GO:0032835)2.75734570
196mesonephric tubule development (GO:0072164)2.74771932
197regulation of cardiac muscle cell proliferation (GO:0060043)2.74553791
198vagina development (GO:0060068)2.74374524
199regulation of mesoderm development (GO:2000380)10.8548592

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.97680967
2* RXR_22158963_ChIP-Seq_LIVER_Mouse6.03604615
3PPARA_22158963_ChIP-Seq_LIVER_Mouse5.07201548
4LXR_22158963_ChIP-Seq_LIVER_Mouse4.71886073
5* EGR1_23403033_ChIP-Seq_LIVER_Mouse4.58359410
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.25263654
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.38765499
8* SMAD4_21741376_ChIP-Seq_HESCs_Human3.19913152
9SMAD3_21741376_ChIP-Seq_EPCs_Human3.15881409
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.13078150
11* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.95083338
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.94074566
13WT1_19549856_ChIP-ChIP_CCG9911_Human2.82846740
14FLI1_27457419_Chip-Seq_LIVER_Mouse2.77518318
15P300_19829295_ChIP-Seq_ESCs_Human2.75072605
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.74192378
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.71425782
18SMAD2/3_21741376_ChIP-Seq_EPCs_Human2.70301294
19TRIM28_21343339_ChIP-Seq_HEK293_Human2.69954980
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.54909549
21* RARG_19884340_ChIP-ChIP_MEFs_Mouse2.52110518
22EOMES_21245162_ChIP-Seq_HESCs_Human2.48503748
23IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.38719411
24PCGF2_27294783_Chip-Seq_ESCs_Mouse2.36332156
25CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.35734568
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32719569
27CLOCK_20551151_ChIP-Seq_293T_Human2.29754995
28KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.27039278
29KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.27039278
30KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.27039278
31CTBP2_25329375_ChIP-Seq_LNCAP_Human2.25502159
32SMAD4_21741376_ChIP-Seq_EPCs_Human2.20626820
33TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.20610362
34CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06824372
35VDR_22108803_ChIP-Seq_LS180_Human2.06238371
36HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.04556924
37POU5F1_16153702_ChIP-ChIP_HESCs_Human2.02216221
38PCGF2_27294783_Chip-Seq_NPCs_Mouse2.00552741
39* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.00279876
40EWS_26573619_Chip-Seq_HEK293_Human1.98983626
41CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.87256569
42PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.83756670
43FUS_26573619_Chip-Seq_HEK293_Human1.79016792
44TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.77970718
45* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.76750560
46ELK1_19687146_ChIP-ChIP_HELA_Human1.75948916
47SALL1_21062744_ChIP-ChIP_HESCs_Human1.72528118
48NANOG_16153702_ChIP-ChIP_HESCs_Human1.69301583
49NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.68581006
50MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.67415878
51ESR2_21235772_ChIP-Seq_MCF-7_Human1.66841979
52CDX2_20551321_ChIP-Seq_CACO-2_Human1.65973937
53IRF8_22096565_ChIP-ChIP_GC-B_Human1.63083696
54TAF15_26573619_Chip-Seq_HEK293_Human1.58630728
55KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.56745954
56TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.51745008
57OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50219832
58NANOG_19829295_ChIP-Seq_ESCs_Human1.49947402
59SOX2_19829295_ChIP-Seq_ESCs_Human1.49947402
60EZH2_27294783_Chip-Seq_NPCs_Mouse1.49066213
61RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.48989028
62RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.48055675
63ZNF274_21170338_ChIP-Seq_K562_Hela1.47535706
64IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.47218072
65CBP_20019798_ChIP-Seq_JUKART_Human1.47218072
66* GATA2_21666600_ChIP-Seq_HMVEC_Human1.47190111
67EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46154100
68HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.45547042
69MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.45524591
70CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.43622766
71AR_25329375_ChIP-Seq_VCAP_Human1.43327599
72GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.43231236
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40771731
74FOXA2_19822575_ChIP-Seq_HepG2_Human1.40089907
75PADI4_21655091_ChIP-ChIP_MCF-7_Human1.39760430
76HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.39374046
77GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39077377
78TCF4_22108803_ChIP-Seq_LS180_Human1.39037487
79GABP_17652178_ChIP-ChIP_JURKAT_Human1.38120162
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37352144
81Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.34736171
82TP63_19390658_ChIP-ChIP_HaCaT_Human1.33441719
83ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.33382213
84FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.32060048
85NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.30668208
86NRF2_20460467_ChIP-Seq_MEFs_Mouse1.30668208
87GATA4_25053715_ChIP-Seq_YYC3_Human1.30624854
88KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.30395622
89SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29803060
90E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.25897193
91HNF4A_19822575_ChIP-Seq_HepG2_Human1.24954301
92EP300_21415370_ChIP-Seq_HL-1_Mouse1.24943232
93SALL4_18804426_ChIP-ChIP_XEN_Mouse1.24827545
94PRDM14_20953172_ChIP-Seq_ESCs_Human1.24677230
95PPAR_26484153_Chip-Seq_NCI-H1993_Human1.24173138
96EST1_17652178_ChIP-ChIP_JURKAT_Human1.24051005
97PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.22693210
98SMAD4_21799915_ChIP-Seq_A2780_Human1.22599800
99CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.22033965
100SOX2_20726797_ChIP-Seq_SW620_Human1.21789426
101KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21639282
102CRX_20693478_ChIP-Seq_RETINA_Mouse1.21549580
103RUNX2_22187159_ChIP-Seq_PCA_Human1.20744232
104CREB1_15753290_ChIP-ChIP_HEK293T_Human1.19430531
105SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.18605761
106SMAD3_21741376_ChIP-Seq_ESCs_Human1.18551918
107* CJUN_26792858_Chip-Seq_BT549_Human1.17585891
108MYC_18940864_ChIP-ChIP_HL60_Human1.15541879
109SOX2_27498859_Chip-Seq_STOMACH_Mouse1.15277954
110TP53_22573176_ChIP-Seq_HFKS_Human1.14791436
111MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.14782552
112CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.14770109
113PIAS1_25552417_ChIP-Seq_VCAP_Human1.12449490
114OCT4_21477851_ChIP-Seq_ESCs_Mouse1.11585253
115TCF3_18692474_ChIP-Seq_MEFs_Mouse1.11068219
116TBX3_20139965_ChIP-Seq_MESCs_Mouse1.10999555
117TBX3_20139965_ChIP-Seq_ESCs_Mouse1.10099323
118NFE2_27457419_Chip-Seq_LIVER_Mouse1.09780666
119BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.09719583
120FOXA1_21572438_ChIP-Seq_LNCaP_Human1.09352542
121TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08729293
122TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07797166
123POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.07797166
124SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.06587940
125ER_23166858_ChIP-Seq_MCF-7_Human1.06038171
126PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05688012
127CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05544912
128STAT3_23295773_ChIP-Seq_U87_Human1.05269138
129CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.05180834
130TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.04602808
131FLI1_21867929_ChIP-Seq_TH2_Mouse1.03744141
132EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02216460
133TP63_17297297_ChIP-ChIP_HaCaT_Human1.01655254
134KDM2B_26808549_Chip-Seq_REH_Human1.01209423
135GATA1_22025678_ChIP-Seq_K562_Human1.00953713
136BMI1_23680149_ChIP-Seq_NPCS_Mouse0.98884765
137TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98690220
138ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.92058278
139ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91564988
140ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.89752108
141EGR1_19032775_ChIP-ChIP_M12_Human0.89431410
142FOXO3_23340844_ChIP-Seq_DLD1_Human0.88768308
143CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.88016532
144TBX20_22080862_ChIP-Seq_HEART_Mouse0.85181854
145TBX20_22328084_ChIP-Seq_HEART_Mouse0.85181854
146AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.84538864
147CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82520121
148STAT3_1855785_ChIP-Seq_MESCs_Mouse0.81077159
149CDX2_22108803_ChIP-Seq_LS180_Human0.80729951
150* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80521627
151ESR1_20079471_ChIP-ChIP_T-47D_Human0.79775681
152PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.77926026
153BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.76142375
154EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.75661446
155* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.75429400
156TP63_23658742_ChIP-Seq_EP156T_Human0.74851405
157GBX2_23144817_ChIP-Seq_PC3_Human0.74679645
158THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.74466309
159RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74211398
160STAT1_17558387_ChIP-Seq_HELA_Human0.73529505
161FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.72034835
162AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.71141019
163VDR_24787735_ChIP-Seq_THP-1_Human0.69559562
164GATA2_19941826_ChIP-Seq_K562_Human0.68686066
165RXR_22108803_ChIP-Seq_LS180_Human0.67450672
166FOXM1_26456572_ChIP-Seq_MCF-7_Human0.66675471
167AR_20517297_ChIP-Seq_VCAP_Human0.66318404
168KAP1_22055183_ChIP-Seq_ESCs_Mouse0.63064446
169AHR_22903824_ChIP-Seq_MCF-7_Human0.62999582
170SMAD3_21741376_ChIP-Seq_HESCs_Human0.62977331
171* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.61558585
172RXRA_24833708_ChIP-Seq_LIVER_Mouse0.61153110
173SOX9_24532713_ChIP-Seq_HFSC_Mouse0.60506233
174TP53_18474530_ChIP-ChIP_U2OS_Human0.60323477
175SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.60121889
176SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.60121889
177FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.59685000
178GATA3_24758297_ChIP-Seq_MCF-7_Human0.59278388
179PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.59135866
180BCAT_22108803_ChIP-Seq_LS180_Human0.58548318
181NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.57892422
182P63_26484246_Chip-Seq_KERATINOCYTES_Human0.56998149
183AUTS2_25519132_ChIP-Seq_293T-REX_Human0.55955646
184NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.55800208
185SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.55474844
186BP1_19119308_ChIP-ChIP_Hs578T_Human0.55245101
187ARNT_22903824_ChIP-Seq_MCF-7_Human0.55167743

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.25054491
2MP0002139_abnormal_hepatobiliary_system6.23819165
3MP0008004_abnormal_stomach_pH4.89390584
4MP0005365_abnormal_bile_salt4.20379271
5MP0005085_abnormal_gallbladder_physiolo4.18525240
6MP0003119_abnormal_digestive_system4.14844140
7MP0008875_abnormal_xenobiotic_pharmacok4.11484542
8MP0005332_abnormal_amino_acid3.99626251
9MP0004019_abnormal_vitamin_homeostasis3.87994509
10MP0003195_calcinosis3.86169785
11MP0006054_spinal_hemorrhage3.76584624
12MP0003252_abnormal_bile_duct3.72571396
13MP0002138_abnormal_hepatobiliary_system3.67865872
14MP0004043_abnormal_pH_regulation3.66700911
15MP0005499_abnormal_olfactory_system3.21784768
16MP0005394_taste/olfaction_phenotype3.21784768
17MP0009643_abnormal_urine_homeostasis3.03572391
18MP0010030_abnormal_orbit_morphology2.48898818
19MP0003806_abnormal_nucleotide_metabolis2.44027360
20MP0001756_abnormal_urination2.39003479
21MP0004133_heterotaxia2.37089564
22MP0008995_early_reproductive_senescence2.27022086
23MP0002136_abnormal_kidney_physiology2.22520629
24MP0002736_abnormal_nociception_after2.18764336
25MP0005636_abnormal_mineral_homeostasis2.13826428
26MP0001765_abnormal_ion_homeostasis2.12469982
27MP0006072_abnormal_retinal_apoptosis2.05332629
28MP0003890_abnormal_embryonic-extraembry11.4730705
29MP0002102_abnormal_ear_morphology1.99761089
30MP0010329_abnormal_lipoprotein_level1.99697400
31MP0003186_abnormal_redox_activity1.98953449
32MP0001984_abnormal_olfaction1.96770343
33MP0002277_abnormal_respiratory_mucosa1.96375694
34MP0001958_emphysema1.82278729
35MP0010368_abnormal_lymphatic_system1.79214970
36MP0005084_abnormal_gallbladder_morpholo1.76885079
37MP0003385_abnormal_body_wall1.72949397
38MP0005319_abnormal_enzyme/_coenzyme1.71564272
39MP0005670_abnormal_white_adipose1.67327190
40MP0002084_abnormal_developmental_patter1.67223411
41MP0000462_abnormal_digestive_system1.65933339
42MP0005423_abnormal_somatic_nervous1.65234896
43MP0003880_abnormal_central_pattern1.61999237
44MP0003191_abnormal_cellular_cholesterol1.59171407
45MP0001666_abnormal_nutrient_absorption1.55543429
46MP0003724_increased_susceptibility_to1.53838186
47MP0005584_abnormal_enzyme/coenzyme_acti1.53833935
48MP0001293_anophthalmia1.47156464
49MP0002928_abnormal_bile_duct1.45519043
50MP0003937_abnormal_limbs/digits/tail_de1.43344547
51MP0002876_abnormal_thyroid_physiology1.40720293
52MP0002118_abnormal_lipid_homeostasis1.36683934
53MP0003137_abnormal_impulse_conducting1.36414702
54MP0009764_decreased_sensitivity_to1.33207849
55MP0001764_abnormal_homeostasis1.32536635
56MP0001286_abnormal_eye_development1.32196237
57MP0005380_embryogenesis_phenotype1.31351360
58MP0001672_abnormal_embryogenesis/_devel1.31351360
59MP0000609_abnormal_liver_physiology1.26073124
60MP0008932_abnormal_embryonic_tissue1.24575478
61MP0000428_abnormal_craniofacial_morphol1.24450515
62MP0005083_abnormal_biliary_tract1.23728642
63MP0001485_abnormal_pinna_reflex1.22896422
64MP0006292_abnormal_olfactory_placode1.21979193
65MP0003300_gastrointestinal_ulcer1.21093358
66MP0001879_abnormal_lymphatic_vessel1.20139939
67MP0002111_abnormal_tail_morphology1.19404484
68MP0005451_abnormal_body_composition1.18942232
69MP0003936_abnormal_reproductive_system1.18522245
70MP0002233_abnormal_nose_morphology1.17928257
71MP0000569_abnormal_digit_pigmentation1.16749997
72MP0000230_abnormal_systemic_arterial1.15297188
73MP0004957_abnormal_blastocyst_morpholog1.13553181
74MP0002168_other_aberrant_phenotype1.09844703
75MP0004215_abnormal_myocardial_fiber1.05905830
76MP0003283_abnormal_digestive_organ1.05225179
77MP0004272_abnormal_basement_membrane1.05210184
78MP0005058_abnormal_lysosome_morphology1.03563807
79MP0001529_abnormal_vocalization1.01883598
80MP0002135_abnormal_kidney_morphology1.01465156
81MP0008789_abnormal_olfactory_epithelium1.01209710
82MP0002938_white_spotting1.00319496
83MP0000538_abnormal_urinary_bladder1.00298685
84MP0003878_abnormal_ear_physiology1.00226885
85MP0005377_hearing/vestibular/ear_phenot1.00226885
86MP0000516_abnormal_urinary_system0.99348871
87MP0005367_renal/urinary_system_phenotyp0.99348871
88MP0002085_abnormal_embryonic_tissue0.98725915
89MP0008872_abnormal_physiological_respon0.98115481
90MP0000372_irregular_coat_pigmentation0.97779271
91MP0010094_abnormal_chromosome_stability0.96390755
92MP0003935_abnormal_craniofacial_develop0.94185716
93MP0001968_abnormal_touch/_nociception0.94054553
94MP0008469_abnormal_protein_level0.93406390
95MP0005551_abnormal_eye_electrophysiolog0.91670061
96MP0000049_abnormal_middle_ear0.91395319
97MP0002127_abnormal_cardiovascular_syste0.90245450
98MP0006036_abnormal_mitochondrial_physio0.88578587
99MP0009642_abnormal_blood_homeostasis0.88287110
100MP0005275_abnormal_skin_tensile0.86450484
101MP0002109_abnormal_limb_morphology0.85609734
102MP0005408_hypopigmentation0.85592982
103MP0000598_abnormal_liver_morphology0.85231671
104MP0004085_abnormal_heartbeat0.85001951
105MP0002088_abnormal_embryonic_growth/wei0.83495706
106MP0001727_abnormal_embryo_implantation0.83078463
107MP0003984_embryonic_growth_retardation0.82766108
108MP0003705_abnormal_hypodermis_morpholog0.81804490
109MP0005165_increased_susceptibility_to0.80809159
110MP0005220_abnormal_exocrine_pancreas0.80601944
111MP0005253_abnormal_eye_physiology0.79865215
112MP0003786_premature_aging0.78931219
113MP0009840_abnormal_foam_cell0.78483648
114MP0005167_abnormal_blood-brain_barrier0.78184523
115MP0005535_abnormal_body_temperature0.77747787
116MP0008961_abnormal_basal_metabolism0.76903646
117MP0001661_extended_life_span0.73701134
118MP0009697_abnormal_copulation0.72778312
119MP0004147_increased_porphyrin_level0.70835684
120MP0000762_abnormal_tongue_morphology0.70376755
121MP0003868_abnormal_feces_composition0.69984324
122MP0002295_abnormal_pulmonary_circulatio0.69814235
123MP0005395_other_phenotype0.69054094
124MP0001730_embryonic_growth_arrest0.68480556
125MP0000358_abnormal_cell_content/0.68418496
126MP0005595_abnormal_vascular_smooth0.68330032
127MP0005248_abnormal_Harderian_gland0.68058564
128MP0002925_abnormal_cardiovascular_devel0.67374481
129MP0001881_abnormal_mammary_gland0.66098188
130MP0003279_aneurysm0.65929534
131MP0005647_abnormal_sex_gland0.65436863
132MP0009763_increased_sensitivity_to0.64730002
133MP0002184_abnormal_innervation0.63776208
134MP0005666_abnormal_adipose_tissue0.63569522
135MP0005410_abnormal_fertilization0.63406836
136MP0001929_abnormal_gametogenesis0.63330640
137MP0002896_abnormal_bone_mineralization0.61801623
138MP0003567_abnormal_fetal_cardiomyocyte0.61077354
139MP0003638_abnormal_response/metabolism_0.60632202
140MP0000432_abnormal_head_morphology0.60058087
141MP0002932_abnormal_joint_morphology0.59549200
142MP0005257_abnormal_intraocular_pressure0.58811268
143MP0005376_homeostasis/metabolism_phenot0.58484356
144MP0002210_abnormal_sex_determination0.58317462
145MP0005174_abnormal_tail_pigmentation0.58295695
146MP0001697_abnormal_embryo_size0.58265207
147MP0002115_abnormal_skeleton_extremities0.57984484
148MP0002086_abnormal_extraembryonic_tissu0.57571746
149MP0004264_abnormal_extraembryonic_tissu0.57030425
150MP0003755_abnormal_palate_morphology0.56887879
151MP0002132_abnormal_respiratory_system0.56452960
152MP0003943_abnormal_hepatobiliary_system0.55323552
153MP0008058_abnormal_DNA_repair0.54460579
154MP0004782_abnormal_surfactant_physiolog0.54347160
155MP0000653_abnormal_sex_gland0.54111952
156MP0000163_abnormal_cartilage_morphology0.54045446
157MP0005075_abnormal_melanosome_morpholog0.53770804
158MP0005391_vision/eye_phenotype0.53129495
159MP0009384_cardiac_valve_regurgitation0.52739618
160MP0009765_abnormal_xenobiotic_induced0.52031047
161MP0006082_CNS_inflammation0.51920495
162MP0002078_abnormal_glucose_homeostasis0.51011718
163MP0005166_decreased_susceptibility_to0.49890968
164MP0003566_abnormal_cell_adhesion0.49785930
165MP0002234_abnormal_pharynx_morphology0.48871852
166MP0001845_abnormal_inflammatory_respons0.45222577
167MP0002332_abnormal_exercise_endurance0.43848704
168MP0000249_abnormal_blood_vessel0.43430047
169MP0002998_abnormal_bone_remodeling0.42748812
170MP0008438_abnormal_cutaneous_collagen0.39703742
171MP0001270_distended_abdomen0.38686192
172MP0000371_diluted_coat_color0.38543034
173MP0000343_altered_response_to0.38380348
174MP0005503_abnormal_tendon_morphology0.38173966
175MP0003953_abnormal_hormone_level0.37099862
176MP0005164_abnormal_response_to0.36229600
177MP0004130_abnormal_muscle_cell0.35984924
178MP0002254_reproductive_system_inflammat0.35414560
179MP0001177_atelectasis0.35401253
180MP0000678_abnormal_parathyroid_gland0.35384397
181MP0006138_congestive_heart_failure0.35034930
182MP0003075_altered_response_to0.34489227
183MP0005330_cardiomyopathy0.34195626
184MP0009053_abnormal_anal_canal0.34135533
185MP0002971_abnormal_brown_adipose0.34102038

Predicted human phenotypes

RankGene SetZ-score
1Hypokalemic alkalosis (HP:0001949)5.90652960
2Increased circulating renin level (HP:0000848)5.79775766
3Gout (HP:0001997)5.57439352
4Congenital malformation of the right heart (HP:0011723)5.51461880
5Double outlet right ventricle (HP:0001719)5.51461880
6Hyperactive renin-angiotensin system (HP:0000841)5.47866637
7Metabolic alkalosis (HP:0200114)5.46535369
8Abnormal umbilical cord blood vessels (HP:0011403)5.30666171
9Single umbilical artery (HP:0001195)5.30666171
10Abnormality of the fetal cardiovascular system (HP:0010948)5.30666171
11Hypomagnesemia (HP:0002917)5.24507920
12Abnormal pancreas size (HP:0012094)5.22602982
13Polyuria (HP:0000103)5.15326461
14Abnormality of chloride homeostasis (HP:0011422)4.93096007
15Abnormal urine output (HP:0012590)4.92712066
16Abnormality of glutamine family amino acid metabolism (HP:0010902)4.88488551
17Abnormality of abdominal situs (HP:0011620)4.71691210
18Abdominal situs inversus (HP:0003363)4.71691210
19Proximal tubulopathy (HP:0000114)4.71439181
20Abnormality of renal excretion (HP:0011036)4.65147651
21Anal stenosis (HP:0002025)4.62196182
22Abnormality of magnesium homeostasis (HP:0004921)4.56965564
23Hyperglycinuria (HP:0003108)4.55190604
24Alkalosis (HP:0001948)4.41511063
25Gonadotropin excess (HP:0000837)4.32347518
26Increased purine levels (HP:0004368)4.21920370
27Hyperuricemia (HP:0002149)4.21920370
28Abnormality of purine metabolism (HP:0004352)4.18949587
29Polydipsia (HP:0001959)4.17916292
30Abnormal drinking behavior (HP:0030082)4.17916292
31Tetany (HP:0001281)4.13747812
32Generalized aminoaciduria (HP:0002909)4.02638819
33Abnormality of aromatic amino acid family metabolism (HP:0004338)4.01666294
34Gonadal dysgenesis (HP:0000133)3.95664996
35Hyperaldosteronism (HP:0000859)3.90244449
36Abnormality of renin-angiotensin system (HP:0000847)3.85445963
37Progressive inability to walk (HP:0002505)3.85152101
38Abnormality of glycine metabolism (HP:0010895)3.81450747
39Abnormality of serine family amino acid metabolism (HP:0010894)3.81450747
40Intestinal atresia (HP:0011100)3.79853421
41Ketoacidosis (HP:0001993)3.67336044
42Septo-optic dysplasia (HP:0100842)3.65976425
43Ketosis (HP:0001946)3.63235491
44Abnormality of fatty-acid metabolism (HP:0004359)3.62674538
45Renal salt wasting (HP:0000127)3.57822123
46Abnormality of nucleobase metabolism (HP:0010932)3.48417049
47Abnormality of aspartate family amino acid metabolism (HP:0010899)3.42532569
48Intrahepatic cholestasis (HP:0001406)3.41618756
49Rectovaginal fistula (HP:0000143)3.37207275
50Rectal fistula (HP:0100590)3.37207275
51Vascular calcification (HP:0004934)3.36106207
52Abnormality of the umbilical cord (HP:0010881)3.28342819
53Abnormality of the parathyroid morphology (HP:0011766)3.26508789
54Abnormality of monocarboxylic acid metabolism (HP:0010996)3.25615029
55Renal tubular acidosis (HP:0001947)3.23902030
56Abnormality of proline metabolism (HP:0010907)3.17910963
57Hydroxyprolinuria (HP:0003080)3.17910963
58Deep venous thrombosis (HP:0002625)3.16920258
59Hyperammonemia (HP:0001987)3.16458115
60Xanthomatosis (HP:0000991)3.14845415
61Hyperglycinemia (HP:0002154)3.11615335
62Short middle phalanx of the 5th finger (HP:0004220)3.11096209
63Volvulus (HP:0002580)3.10465169
64Cardiovascular calcification (HP:0011915)3.07869485
65Anophthalmia (HP:0000528)3.07778768
66Abnormality of urine glucose concentration (HP:0011016)3.04225399
67Glycosuria (HP:0003076)3.04225399
68Bifid tongue (HP:0010297)3.03788098
69Abnormal ventriculo-arterial connection (HP:0011563)3.02257559
70Transposition of the great arteries (HP:0001669)3.02257559
71Abnormal connection of the cardiac segments (HP:0011545)3.02257559
72Hypokalemia (HP:0002900)2.95084367
73Delayed CNS myelination (HP:0002188)2.90103704
74Oligodactyly (hands) (HP:0001180)2.89259432
75Abnormality of sulfur amino acid metabolism (HP:0004339)2.88228446
76Preauricular pit (HP:0004467)2.87261548
77Periauricular skin pits (HP:0100277)2.87261548
78Hypoglycemic coma (HP:0001325)2.87047640
79Hypoplastic pelvis (HP:0008839)2.83644323
80Joint hemorrhage (HP:0005261)2.81283685
81Hypercalciuria (HP:0002150)2.79652768
82Intestinal fistula (HP:0100819)2.77858056
83Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.77663548
84Vaginal fistula (HP:0004320)2.72183674
85Enlarged kidneys (HP:0000105)2.69008695
86Metabolic acidosis (HP:0001942)2.68029695
87Glomerulosclerosis (HP:0000096)2.67160468
88Dicarboxylic aciduria (HP:0003215)2.66872237
89Abnormality of dicarboxylic acid metabolism (HP:0010995)2.66872237
90Absent radius (HP:0003974)2.63558097
91Asplenia (HP:0001746)2.58720472
92Preaxial foot polydactyly (HP:0001841)2.57671215
93Aplasia/Hypoplasia of the sacrum (HP:0008517)2.56522377
94Abnormality of potassium homeostasis (HP:0011042)2.55115679
95Pancreatic islet-cell hyperplasia (HP:0004510)2.50028242
96Bile duct proliferation (HP:0001408)2.49616085
97Abnormal biliary tract physiology (HP:0012439)2.49616085
98Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.46130206
99Labial hypoplasia (HP:0000066)2.45807137
100Aplasia involving forearm bones (HP:0009822)2.45735510
101Absent forearm bone (HP:0003953)2.45735510
102Cortical dysplasia (HP:0002539)2.45159898
103Short humerus (HP:0005792)2.44845109
104Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.43836909
105Prolonged partial thromboplastin time (HP:0003645)2.42451447
106Aplasia/hypoplasia of the humerus (HP:0006507)2.40211628
107Potter facies (HP:0002009)2.39693064
108Facial shape deformation (HP:0011334)2.39693064
109Nephrocalcinosis (HP:0000121)2.39431596
110Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.39062332
111Nephrolithiasis (HP:0000787)2.38850791
112Methylmalonic acidemia (HP:0002912)2.37422113
113Abnormality of the aortic arch (HP:0012303)2.36432169
114Anal atresia (HP:0002023)2.35397972
115Vomiting (HP:0002013)2.35378075
116Chondrocalcinosis (HP:0000934)2.35043986
117Aplasia/Hypoplasia of the spleen (HP:0010451)2.34479594
118Abnormality of serum amino acid levels (HP:0003112)2.34382656
119Rickets (HP:0002748)2.34167683
120Lethargy (HP:0001254)2.31868287
121Focal segmental glomerulosclerosis (HP:0000097)2.31072440
122Hyperphosphaturia (HP:0003109)2.29123445
123Abnormality of the pubic bones (HP:0003172)2.28078930
124Hypoplastic female external genitalia (HP:0012815)2.25820453
125Abnormality of Sharpey fibers (HP:0100685)2.24552173
126Hypophosphatemia (HP:0002148)2.23086844
127Disproportionate short-trunk short stature (HP:0003521)2.20383635
128Abnormality of the phalanges of the 5th finger (HP:0004213)2.19224519
129Abnormality of chromosome stability (HP:0003220)2.19067335
130Mesomelia (HP:0003027)2.19021730
131Abnormalities of placenta or umbilical cord (HP:0001194)2.17721263
132Abnormal urine phosphate concentration (HP:0012599)2.15975387
133Fat malabsorption (HP:0002630)2.14265313
134Hyperlipoproteinemia (HP:0010980)2.12737894
135Shawl scrotum (HP:0000049)2.12283924
136Nausea (HP:0002018)2.12075759
137Aplasia/Hypoplasia of the uvula (HP:0010293)2.11255780
138Hepatocellular carcinoma (HP:0001402)2.11097827
139Optic nerve hypoplasia (HP:0000609)2.10790542
140Bilateral sensorineural hearing impairment (HP:0008619)2.10244259
141Aqueductal stenosis (HP:0002410)2.08422546
142Ectopic anus (HP:0004397)2.08168158
143Abnormality of pyrimidine metabolism (HP:0004353)2.07351971
144Abolished electroretinogram (ERG) (HP:0000550)2.07260665
145Abnormal enzyme/coenzyme activity (HP:0012379)2.06663012
146Renal cortical cysts (HP:0000803)2.04786042
147Vacuolated lymphocytes (HP:0001922)2.03611728
148Sensorimotor neuropathy (HP:0007141)1.99500329
149Abnormality of the renal cortex (HP:0011035)1.99399644
150Dehydration (HP:0001944)1.99328610
151Tubulointerstitial fibrosis (HP:0005576)1.98467305
152Abnormal lung lobation (HP:0002101)1.98386456
153Hemivertebrae (HP:0002937)1.97765307
154Renal tubular dysfunction (HP:0000124)1.97601435
155Absent septum pellucidum (HP:0001331)1.96622491
156Abnormal vertebral ossification (HP:0100569)1.95956673
157Lymphangioma (HP:0100764)1.95891150
158Hypobetalipoproteinemia (HP:0003563)1.94876896
159Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.94005987
160Abnormality of methionine metabolism (HP:0010901)1.91957180
161Abnormality of alkaline phosphatase activity (HP:0004379)1.91535721
162Abnormality of the common coagulation pathway (HP:0010990)1.90600771
163Abnormality of the intrinsic pathway (HP:0010989)1.90244787
164Abnormal tarsal ossification (HP:0008369)1.89243356
165Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.89065292
166Widely patent fontanelles and sutures (HP:0004492)1.88371037
167Tubular atrophy (HP:0000092)1.87826725
168Methylmalonic aciduria (HP:0012120)1.86731151
169Nephritis (HP:0000123)1.86416888
170Abnormality of the septum pellucidum (HP:0007375)1.86009734
171Malnutrition (HP:0004395)1.85836136
172Esophageal varix (HP:0002040)1.85713333
173Anteriorly placed anus (HP:0001545)1.85460562
174Patent foramen ovale (HP:0001655)1.81566667
175Hypoplasia of the fovea (HP:0007750)1.81367401
176Aplasia/Hypoplasia of the fovea (HP:0008060)1.81367401
177Vaginal atresia (HP:0000148)1.80727029
178Renal agenesis (HP:0000104)1.79469792
179Hypoglycemic seizures (HP:0002173)1.78879655
180Genital tract atresia (HP:0001827)1.78772806
181Respiratory difficulties (HP:0002880)1.78315446
182Ependymoma (HP:0002888)1.76368249
183Short hallux (HP:0010109)1.74168551
184Hypoplastic labia majora (HP:0000059)1.73520639
185Rib fusion (HP:0000902)1.72649335
186Infantile muscular hypotonia (HP:0008947)1.72479378
187Mixed hearing impairment (HP:0000410)1.71441072
188Esophageal atresia (HP:0002032)1.71356020
189Premature rupture of membranes (HP:0001788)1.71258593
190Renal hypoplasia (HP:0000089)1.70990559
191Neoplasm of the adrenal gland (HP:0100631)1.69567846
192Hypoalphalipoproteinemia (HP:0003233)1.68328999
193Nuclear cataract (HP:0100018)1.66873987
194Inability to walk (HP:0002540)1.66435721
195Gastrointestinal atresia (HP:0002589)1.65956965
196Soft skin (HP:0000977)1.65840567
197Skin pits (HP:0100276)1.64998280

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK46.89476905
2ACVR1B6.70211527
3WNK35.65744781
4OXSR15.45588860
5PBK5.10707083
6BMPR1B4.77155439
7BCKDK3.79607983
8TRIM283.37318264
9TIE13.33490197
10STK393.18013785
11TNIK3.06694319
12STK38L2.38910084
13TGFBR22.38383926
14SIK32.32920370
15INSRR2.27229594
16PLK42.17361847
17FGFR42.17297121
18KDR1.85345889
19PNCK1.81283138
20NUAK11.76760525
21MKNK21.70814949
22PLK21.70051650
23MYLK1.68940844
24ERN11.63476644
25MAP4K21.57323091
26PRKD31.52798735
27SGK2231.52183432
28SGK4941.52183432
29MAP3K141.47924726
30PDK21.47615252
31PINK11.44081201
32SGK21.39081523
33IRAK31.35897048
34PKN21.34767066
35PDK31.29958928
36PDK41.29958928
37FRK1.29231088
38FLT31.28810362
39TAF11.26769706
40SGK31.26584846
41MST1R1.24852213
42MAP3K41.22590418
43MAP3K31.15962991
44NEK91.15544922
45ZAK1.15251115
46ADRBK11.12830267
47EPHB21.09229463
48MAPK131.06740767
49EPHB11.04135263
50LATS11.01580070
51SIK10.99868551
52BCR0.99112615
53EIF2AK30.96894507
54WNK10.95983577
55CASK0.93173967
56STK380.91224062
57TGFBR10.88241893
58MELK0.84207936
59PTK60.83668548
60MAPK150.81604407
61MAP3K120.80705676
62MST40.80435581
63EPHA30.80340181
64MKNK10.80186961
65MAP2K30.79632052
66PLK30.78275884
67ERBB40.77662681
68FER0.76644763
69GSK3A0.76312442
70MAP3K90.75084066
71MAP3K70.74118666
72GRK10.72636368
73IRAK10.70879532
74PAK40.70014875
75ABL20.66078399
76FGFR30.66047717
77BRSK20.65475762
78LRRK20.65016651
79PTK20.61600886
80CHUK0.61564147
81VRK20.60779133
82MAP2K10.57674176
83PRKAA20.56955293
84STK30.55089759
85PIK3CG0.54798976
86WEE10.54439101
87JAK10.54286953
88IKBKE0.54222620
89TBK10.52384705
90ERBB30.50339353
91PRKCQ0.50212501
92TYK20.49489011
93DMPK0.48274277
94SRPK10.46105224
95PAK30.45691424
96MAP2K70.45420885
97EPHA20.45257403
98ROCK10.45042002
99MAPK110.44569589
100FGFR10.43621709
101EIF2AK10.43225483
102STK100.42348535
103ROCK20.42262009
104IRAK40.40402719
105VRK10.40045573
106STK40.39343225
107ADRBK20.39029559
108TEC0.38485160
109TRPM70.37994948
110BMPR20.37144954
111PRKD20.36920211
112CSNK1G20.34183739
113PRKAA10.32994617
114CSNK1G10.32830125
115MAP2K60.32714283
116RIPK10.32525391
117NLK0.32350976
118RAF10.32141522
119NEK10.31918086
120TTN0.31599268
121JAK20.31533989
122IRAK20.31462946
123DAPK20.30977314
124PRKG20.30667185
125SGK10.29580989
126MAPK70.29355286
127MATK0.28537691
128MUSK0.28220871
129PDGFRA0.27797434
130CSK0.27006554
131IGF1R0.26934521
132DYRK1B0.26648156
133IKBKB0.26600455
134PRKACG0.26088848
135PIK3CA0.26006223
136ARAF0.25578140
137PDPK10.25522229
138MAPK120.25105990
139PRKCD0.24962619
140PLK10.23671922
141KIT0.23245368
142CAMK40.23171112
143ABL10.22245267
144PRKCE0.22224062
145MAP3K80.21983860
146TRIB30.21832735
147PTK2B0.21750615
148TAOK20.21608433
149MET0.21408274
150BRSK10.20659009
151EIF2AK20.20314769
152CAMK2A0.19744808
153CAMK1G0.18463873
154OBSCN0.16701715
155MINK10.15588948
156ILK0.14766071
157EPHA40.11016353
158ATM0.10195342
159MAPKAPK30.10046488
160LATS20.09869347
161KSR10.08079515
162PRKCA0.07127248
163PRKCG0.05631358
164PRKG10.05545817
165PAK10.05101752

Predicted pathways (KEGG)

RankGene SetZ-score
1Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.56507537
2Protein export_Homo sapiens_hsa030603.48225885
3Proteasome_Homo sapiens_hsa030503.15196616
4Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.02526774
5Pentose and glucuronate interconversions_Homo sapiens_hsa000403.00517399
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.93253692
7Butanoate metabolism_Homo sapiens_hsa006502.86257838
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.79876266
9Propanoate metabolism_Homo sapiens_hsa006402.78902395
10Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.77983689
11Tryptophan metabolism_Homo sapiens_hsa003802.68994204
12Fatty acid degradation_Homo sapiens_hsa000712.67896977
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.60290493
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.54912151
15Peroxisome_Homo sapiens_hsa041462.53834348
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.50482281
17Basal transcription factors_Homo sapiens_hsa030222.34383597
18Wnt signaling pathway_Homo sapiens_hsa043102.29859164
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.29134077
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.17848666
21Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.12942116
22Non-homologous end-joining_Homo sapiens_hsa034502.10571418
23Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.08752122
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.08437042
25Cyanoamino acid metabolism_Homo sapiens_hsa004602.05395636
26Arginine biosynthesis_Homo sapiens_hsa002202.03885025
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.96964502
28beta-Alanine metabolism_Homo sapiens_hsa004101.93603977
29Olfactory transduction_Homo sapiens_hsa047401.92782493
30Nitrogen metabolism_Homo sapiens_hsa009101.92140371
31TGF-beta signaling pathway_Homo sapiens_hsa043501.85109336
32Fatty acid metabolism_Homo sapiens_hsa012121.83436034
33Chemical carcinogenesis_Homo sapiens_hsa052041.81936641
34Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.81619492
35Basal cell carcinoma_Homo sapiens_hsa052171.80198494
36Vitamin digestion and absorption_Homo sapiens_hsa049771.79527522
37Sulfur metabolism_Homo sapiens_hsa009201.78821345
38Pyruvate metabolism_Homo sapiens_hsa006201.73856596
39PPAR signaling pathway_Homo sapiens_hsa033201.72206286
40Steroid hormone biosynthesis_Homo sapiens_hsa001401.67424064
41Bile secretion_Homo sapiens_hsa049761.60861176
42Complement and coagulation cascades_Homo sapiens_hsa046101.57428290
43Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.53529719
44Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.52432168
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.52082536
46Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.51689028
47Histidine metabolism_Homo sapiens_hsa003401.48937208
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.48562437
49RNA degradation_Homo sapiens_hsa030181.47605401
50Glutathione metabolism_Homo sapiens_hsa004801.41383862
51Retinol metabolism_Homo sapiens_hsa008301.40996138
52Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.40334316
53Starch and sucrose metabolism_Homo sapiens_hsa005001.39581886
54Phenylalanine metabolism_Homo sapiens_hsa003601.36208519
55Selenocompound metabolism_Homo sapiens_hsa004501.34952957
56Drug metabolism - other enzymes_Homo sapiens_hsa009831.31746857
57Carbon metabolism_Homo sapiens_hsa012001.31704894
58Hippo signaling pathway_Homo sapiens_hsa043901.30000827
59Caffeine metabolism_Homo sapiens_hsa002321.24518099
60Fanconi anemia pathway_Homo sapiens_hsa034601.23450554
61Hedgehog signaling pathway_Homo sapiens_hsa043401.22079038
62Homologous recombination_Homo sapiens_hsa034401.21180639
63SNARE interactions in vesicular transport_Homo sapiens_hsa041301.18464086
64Mismatch repair_Homo sapiens_hsa034301.15683011
65Arginine and proline metabolism_Homo sapiens_hsa003301.14466004
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.13812337
67Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12449926
68Lysine degradation_Homo sapiens_hsa003101.11202516
69Folate biosynthesis_Homo sapiens_hsa007901.01310317
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99955424
71Fatty acid elongation_Homo sapiens_hsa000620.99060300
72Tyrosine metabolism_Homo sapiens_hsa003500.98996367
73ABC transporters_Homo sapiens_hsa020100.97606526
74Phototransduction_Homo sapiens_hsa047440.95455075
75N-Glycan biosynthesis_Homo sapiens_hsa005100.89411289
76Cysteine and methionine metabolism_Homo sapiens_hsa002700.88503750
77Biosynthesis of amino acids_Homo sapiens_hsa012300.83960900
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.82988163
79Staphylococcus aureus infection_Homo sapiens_hsa051500.82862685
80RNA transport_Homo sapiens_hsa030130.79280135
81Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.77320711
82Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76699961
83Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75279719
84Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.75004964
85Calcium signaling pathway_Homo sapiens_hsa040200.71261125
86Protein digestion and absorption_Homo sapiens_hsa049740.68149532
87Glycerolipid metabolism_Homo sapiens_hsa005610.66390374
88Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66368011
89Steroid biosynthesis_Homo sapiens_hsa001000.63012857
90Other glycan degradation_Homo sapiens_hsa005110.62965680
91Parkinsons disease_Homo sapiens_hsa050120.61321474
92Cell cycle_Homo sapiens_hsa041100.58966559
93Mineral absorption_Homo sapiens_hsa049780.57074371
94Metabolic pathways_Homo sapiens_hsa011000.50594685
95Collecting duct acid secretion_Homo sapiens_hsa049660.49383037
96Melanogenesis_Homo sapiens_hsa049160.47299570
97Fructose and mannose metabolism_Homo sapiens_hsa000510.46608239
98Colorectal cancer_Homo sapiens_hsa052100.46111467
99Proteoglycans in cancer_Homo sapiens_hsa052050.45296107
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.44804249
101Oocyte meiosis_Homo sapiens_hsa041140.44455364
102Sulfur relay system_Homo sapiens_hsa041220.43928232
103Pentose phosphate pathway_Homo sapiens_hsa000300.43334903
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39298274
105Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.39263154
106Central carbon metabolism in cancer_Homo sapiens_hsa052300.38935811
107Nicotine addiction_Homo sapiens_hsa050330.38913129
108Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.38199562
109Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.37544085
110Renin-angiotensin system_Homo sapiens_hsa046140.36565003
111Huntingtons disease_Homo sapiens_hsa050160.36357436
112Arachidonic acid metabolism_Homo sapiens_hsa005900.35758801
113cAMP signaling pathway_Homo sapiens_hsa040240.32877977
114Glycosaminoglycan degradation_Homo sapiens_hsa005310.32808431
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32291470
116p53 signaling pathway_Homo sapiens_hsa041150.32286490
117Fat digestion and absorption_Homo sapiens_hsa049750.31921234
118Adherens junction_Homo sapiens_hsa045200.27815818
119ECM-receptor interaction_Homo sapiens_hsa045120.27653724
120Serotonergic synapse_Homo sapiens_hsa047260.25540798
121Gastric acid secretion_Homo sapiens_hsa049710.24833916
122Galactose metabolism_Homo sapiens_hsa000520.23509400
123Melanoma_Homo sapiens_hsa052180.23437843
124Tight junction_Homo sapiens_hsa045300.22465286
125Base excision repair_Homo sapiens_hsa034100.20565081
126alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.19629826
127Lysosome_Homo sapiens_hsa041420.19328389
128Nucleotide excision repair_Homo sapiens_hsa034200.18846615
129Thyroid hormone synthesis_Homo sapiens_hsa049180.18576034
130Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.18219153
131Insulin resistance_Homo sapiens_hsa049310.18073993
132One carbon pool by folate_Homo sapiens_hsa006700.17843494
133Adipocytokine signaling pathway_Homo sapiens_hsa049200.12653330
134Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.07338814
135Carbohydrate digestion and absorption_Homo sapiens_hsa049730.03038435
136Autoimmune thyroid disease_Homo sapiens_hsa05320-0.0791726
137Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0747348
138Oxidative phosphorylation_Homo sapiens_hsa00190-0.0669817
139Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120-0.0582859
140Malaria_Homo sapiens_hsa05144-0.0538731
141Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060-0.0530351
142Sphingolipid metabolism_Homo sapiens_hsa00600-0.0440232
143Leukocyte transendothelial migration_Homo sapiens_hsa04670-0.0364801
144Amoebiasis_Homo sapiens_hsa05146-0.0356554
145Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0354510
146Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0317070
147Vitamin B6 metabolism_Homo sapiens_hsa00750-0.0234384
148Hepatitis C_Homo sapiens_hsa05160-0.0147402
149Focal adhesion_Homo sapiens_hsa04510-0.0120827
150Rheumatoid arthritis_Homo sapiens_hsa05323-0.0103153

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